PGD was originally proposed for couples at risk of having a child affected by severe genetic disorders such as cystic fibrosis, which manifest themselves at birth or in very early childhood. However, it is now possible to test for some diseases that occur at a later stage in life, such as Huntington’s disease and some hereditary cancers. “Because the child will carry only a risk – albeit it a high one – of developing these conditions during adulthood, many parents, as well as clinicians, have doubts about terminating such a pregnancy,” Professor Viville says. “In fact some couples would prefer not to have children in these circumstances.”
Twelve couples with a risk of passing on FAP to any children were referred to Professor Viville and his team between 2000 and 2005. At first the team worked on tests to detect the most common FAP mutation, but then, by carrying out double and triple diagnostic tests on each cell, were able to detect the many rarer mutations that are involved in familial cases. “Because the pathology is dominant, and only one member of the couple is affected and at risk of transmitting the disease,” said Professor Viville, “we only have to look for one mutation at a time.
“But there are a number of these mutations and therefore it is necessary to develop a different test for each if we are to be sure that PGD will be effective. Our test is very robust as well as being technically innovative – for the first time in this disease we have been able to use molecular technology at the single cell level, which allows us to detect mutations that are otherwise very difficult to identify.”
The team started eleven IVF cycles, of which nine gave rise to embryo biopsy and eight had an embryo transfer. From these, one boy has been born and two other pregnancies are on-going. Reanalysis of eleven un-transferred embryos confirmed PGD results for FAP mutations.
“We are now able to propose PGD to most couples at risk of transmitting a familial form of FAP to their children”, says Professor Viville. “With our experience growing all the time, we hope that we will shortly be able to develop new protocols which will enable us to offer PGD for all mutations involved in FAP, including those which occur for the first time.”
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University of Maryland researchers contribute to historic detection of gravitational waves and light created by event
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Seven new papers describe the first-ever detection of light from a gravitational wave source. The event, caused by two neutron stars colliding and merging together, was dubbed GW170817 because it sent ripples through space-time that reached Earth on 2017 August 17. Around the world, hundreds of excited astronomers mobilized quickly and were able to observe the event using numerous telescopes, providing a wealth of new data.
Previous detections of gravitational waves have all involved the merger of two black holes, a feat that won the 2017 Nobel Prize in Physics earlier this month....
Material defects in end products can quickly result in failures in many areas of industry, and have a massive impact on the safe use of their products. This is why, in the field of quality assurance, intelligent, nondestructive sensor systems play a key role. They allow testing components and parts in a rapid and cost-efficient manner without destroying the actual product or changing its surface. Experts from the Fraunhofer IZFP in Saarbrücken will be presenting two exhibits at the Blechexpo in Stuttgart from 7–10 November 2017 that allow fast, reliable, and automated characterization of materials and detection of defects (Hall 5, Booth 5306).
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Scientists from the Max Planck Institute of Quantum Optics, using high precision laser spectroscopy of atomic hydrogen, confirm the surprisingly small value of the proton radius determined from muonic hydrogen.
It was one of the breakthroughs of the year 2010: Laser spectroscopy of muonic hydrogen resulted in a value for the proton charge radius that was significantly...
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